Incidental Mutation 'R3839:Klhl40'
ID |
277054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl40
|
Ensembl Gene |
ENSMUSG00000074001 |
Gene Name |
kelch-like 40 |
Synonyms |
2310024D23Rik, Kbtbd5 |
MMRRC Submission |
040892-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R3839 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121606673-121612884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121609482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 453
(Y453C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000098272]
[ENSMUST00000163981]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035110
|
SMART Domains |
Protein: ENSMUSP00000035110 Gene: ENSMUSG00000032523
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
63 |
448 |
2.7e-15 |
PFAM |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098272
AA Change: Y453C
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000095873 Gene: ENSMUSG00000074001 AA Change: Y453C
Domain | Start | End | E-Value | Type |
BTB
|
33 |
128 |
4.61e-29 |
SMART |
BACK
|
133 |
239 |
9.46e-30 |
SMART |
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
Blast:BTB
|
300 |
355 |
2e-27 |
BLAST |
Kelch
|
360 |
412 |
1.77e0 |
SMART |
Kelch
|
413 |
462 |
1.29e-2 |
SMART |
Kelch
|
463 |
510 |
4.68e-9 |
SMART |
Kelch
|
511 |
557 |
2.06e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163981
|
SMART Domains |
Protein: ENSMUSP00000131971 Gene: ENSMUSG00000032523
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
97 |
444 |
3.7e-16 |
PFAM |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215257
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216358
|
Meta Mutation Damage Score |
0.5630 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
Validation Efficiency |
98% (48/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012] PHENOTYPE: Homozygous disruption of this gene results in postnatal growth retardation, abnormal sarcomere morphology, skeletal muscle dysfunction, and complete postnatal lethality. Homozygotes for a null allele develop a nemaline-like myopathy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
Abraxas2 |
T |
A |
7: 132,484,867 (GRCm39) |
S303R |
probably benign |
Het |
Ackr3 |
G |
A |
1: 90,141,850 (GRCm39) |
S103N |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
Aspm |
C |
T |
1: 139,405,792 (GRCm39) |
H1560Y |
probably benign |
Het |
Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
Cald1 |
A |
T |
6: 34,722,700 (GRCm39) |
D122V |
probably damaging |
Het |
Cc2d2a |
T |
C |
5: 43,876,056 (GRCm39) |
V1011A |
probably benign |
Het |
Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
Cmbl |
T |
C |
15: 31,582,144 (GRCm39) |
V47A |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Ctnnd2 |
T |
A |
15: 31,009,174 (GRCm39) |
|
probably null |
Het |
Cyp4a10 |
A |
C |
4: 115,382,544 (GRCm39) |
E278A |
possibly damaging |
Het |
Ddx56 |
T |
C |
11: 6,217,712 (GRCm39) |
D3G |
probably benign |
Het |
Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
Eif3d |
T |
A |
15: 77,848,300 (GRCm39) |
T211S |
probably benign |
Het |
Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
Garnl3 |
C |
T |
2: 32,879,558 (GRCm39) |
G923S |
probably benign |
Het |
Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
Gpr156 |
T |
A |
16: 37,808,962 (GRCm39) |
V228D |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
Itga3 |
A |
G |
11: 94,948,095 (GRCm39) |
|
probably null |
Het |
Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
Msn |
C |
A |
X: 95,203,805 (GRCm39) |
Q303K |
probably damaging |
Het |
Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
Rala |
A |
T |
13: 18,067,759 (GRCm39) |
C91S |
probably damaging |
Het |
Rps9 |
A |
G |
7: 3,709,823 (GRCm39) |
|
probably benign |
Het |
Sdr16c5 |
C |
A |
4: 4,006,601 (GRCm39) |
M230I |
probably damaging |
Het |
Sec14l3 |
A |
G |
11: 4,021,544 (GRCm39) |
|
probably null |
Het |
Senp2 |
T |
C |
16: 21,828,485 (GRCm39) |
S32P |
probably damaging |
Het |
Skor1 |
A |
C |
9: 63,051,730 (GRCm39) |
S746R |
probably damaging |
Het |
Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
Slc47a1 |
G |
T |
11: 61,243,884 (GRCm39) |
|
probably benign |
Het |
Slit3 |
A |
T |
11: 35,399,064 (GRCm39) |
N143I |
probably benign |
Het |
Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
Vmn2r109 |
A |
G |
17: 20,774,704 (GRCm39) |
V217A |
probably damaging |
Het |
Zfp108 |
A |
G |
7: 23,959,981 (GRCm39) |
I191V |
probably benign |
Het |
|
Other mutations in Klhl40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01391:Klhl40
|
APN |
9 |
121,607,983 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02123:Klhl40
|
APN |
9 |
121,608,989 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03059:Klhl40
|
APN |
9 |
121,607,203 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03124:Klhl40
|
APN |
9 |
121,609,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03204:Klhl40
|
APN |
9 |
121,611,696 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03366:Klhl40
|
APN |
9 |
121,612,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Klhl40
|
UTSW |
9 |
121,607,133 (GRCm39) |
missense |
probably damaging |
0.98 |
R1735:Klhl40
|
UTSW |
9 |
121,609,004 (GRCm39) |
missense |
probably benign |
0.00 |
R2430:Klhl40
|
UTSW |
9 |
121,609,667 (GRCm39) |
missense |
possibly damaging |
0.57 |
R3685:Klhl40
|
UTSW |
9 |
121,611,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R3929:Klhl40
|
UTSW |
9 |
121,609,742 (GRCm39) |
missense |
probably benign |
|
R4326:Klhl40
|
UTSW |
9 |
121,607,956 (GRCm39) |
missense |
probably benign |
0.37 |
R4328:Klhl40
|
UTSW |
9 |
121,607,956 (GRCm39) |
missense |
probably benign |
0.37 |
R4664:Klhl40
|
UTSW |
9 |
121,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Klhl40
|
UTSW |
9 |
121,607,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R5228:Klhl40
|
UTSW |
9 |
121,606,867 (GRCm39) |
missense |
probably benign |
0.02 |
R6198:Klhl40
|
UTSW |
9 |
121,607,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Klhl40
|
UTSW |
9 |
121,607,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R7992:Klhl40
|
UTSW |
9 |
121,607,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Klhl40
|
UTSW |
9 |
121,607,623 (GRCm39) |
missense |
probably benign |
0.14 |
R8544:Klhl40
|
UTSW |
9 |
121,607,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R8669:Klhl40
|
UTSW |
9 |
121,607,088 (GRCm39) |
missense |
probably benign |
0.01 |
R8838:Klhl40
|
UTSW |
9 |
121,609,107 (GRCm39) |
missense |
probably benign |
|
R9239:Klhl40
|
UTSW |
9 |
121,607,637 (GRCm39) |
missense |
probably benign |
0.06 |
R9261:Klhl40
|
UTSW |
9 |
121,609,002 (GRCm39) |
missense |
probably benign |
|
R9402:Klhl40
|
UTSW |
9 |
121,609,482 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9650:Klhl40
|
UTSW |
9 |
121,609,083 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9671:Klhl40
|
UTSW |
9 |
121,607,743 (GRCm39) |
missense |
probably benign |
|
Z1177:Klhl40
|
UTSW |
9 |
121,609,759 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCATTGGGTGAAGACCTG -3'
(R):5'- CGTAGACACACATCTTGTTCAG -3'
Sequencing Primer
(F):5'- GACCTGAAAATAATCCTTGAGCAG -3'
(R):5'- GACACACATCTTGTTCAGACATTTC -3'
|
Posted On |
2015-04-06 |